| 基因名 | 突变 |
|---|---|
| PLEC(NM_201380,plectin,4684aa) | g.8:145003898C>T,c.3250G>A,p.G1084R |
| PLEC(NM_201380,plectin,4684aa) | g.8:145002132C>T,c.3700G>A,p.G1234S |
| PLEC(NM_201380,plectin,4684aa) | g.8:145002128G>A,c.3704C>T,p.T1235M |
| PLEC(NM_201380,plectin,4684aa) | g.8:145001765G>A,c.3980C>T,p.A1327V |
| PLEC(NM_201380,plectin,4684aa) | g.8:145001652G>A,c.4093C>T,p.R1365W |
| PLEC(NM_201380,plectin,4684aa) | g.8:145001600C>T,c.4145G>A,p.R1382Q |
| PLEC(NM_201380,plectin,4684aa) | g.8:145001588C>T,c.4157G>A,p.R1386Q |
| PLEC(NM_201380,plectin,4684aa) | g.8:145001473C>T,c.4198G>A,p.E1400K |
| PLEC(NM_201380,plectin,4684aa) | g.8:145001227G>A,c.4274C>T,p.T1425M |
| PLEC(NM_201380,plectin,4684aa) | g.8:145001038G>A,c.4369C>T,p.R1457C |
| PLEC(NM_201380,plectin,4684aa) | g.8:145001031T>C,c.4376A>G,p.H1459R |
| PLEC(NM_201380,plectin,4684aa) | g.8:144999935G>A,c.4573C>T,p.R1525W |
| PLEC(NM_201380,plectin,4684aa) | g.8:144999731C>T,c.4777G>A,p.V1593M |
| PLEC(NM_201380,plectin,4684aa) | g.8:144999541G>A,c.4967C>T,p.S1656L |
| PLEC(NM_201380,plectin,4684aa) | g.8:144999538C>T,c.4970G>A,p.R1657H |
| PLEC(NM_201380,plectin,4684aa) | g.8:144999499C>T,c.5009G>A,p.R1670Q |
| PLEC(NM_201380,plectin,4684aa) | g.8:144999446G>A,c.5062C>T,p.R1688C |
| PLEC(NM_201380,plectin,4684aa) | g.8:144999431C>T,c.5077G>A,p.E1693K |
| PLEC(NM_201380,plectin,4684aa) | g.8:144999421C>T,c.5087G>A,p.R1696Q |
| PLEC(NM_201380,plectin,4684aa) | g.8:144999073C>T,c.5435G>A,p.R1812Q |
| PLEC(NM_201380,plectin,4684aa) | g.8:144999068C>T,c.5440G>A,p.G1814S |
| PLEC(NM_201380,plectin,4684aa) | g.8:144998788C>T,c.5720G>A,p.S1907N |
| PLEC(NM_201380,plectin,4684aa) | g.8:144998621G>A,c.5887C>T,p.R1963W |
| PLEC(NM_201380,plectin,4684aa) | g.8:144998620C>T,c.5888G>A,p.R1963Q |
| PLEC(NM_201380,plectin,4684aa) | g.8:144998480C>T,c.6028G>A,p.E2010K |
| PLEC(NM_201380,plectin,4684aa) | g.8:144998444C>T,c.6064G>A,p.A2022T |
| PLEC(NM_201380,plectin,4684aa) | g.8:144998374C>T,c.6134G>A,p.R2045Q |
| PLEC(NM_201380,plectin,4684aa) | g.8:144998336G>A,c.6172C>T,p.R2058W |